João Paulo Ferreira da Silva Oliveira


AuthID: R-000-7B1

Confirmed Publications: 112



21
TITLE: Fabry disease: Detection of Alu-mediated exon duplication by NGS  Full Text
AUTHORS: Martin Farr; Susana Ferreira; Arwa Al Dilaimi; Sonja Boegeholz; Alexander Goesmann; Joern Kalinowski; Cornelius Knabbe; Lothar Faber; Oliveira, JP ; Volker Rudolph;
PUBLISHED: 2019, SOURCE: MOLECULAR AND CELLULAR PROBES, VOLUME: 45
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
22
TITLE: Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype-phenotype correlations  Full Text
AUTHORS: Oliveira, JP ; Susana Ferreira ;
PUBLISHED: 2019, SOURCE: APPLICATION OF CLINICAL GENETICS, VOLUME: 12
INDEXED IN: Scopus WOS CrossRef: 38
IN MY: ORCID | CIÊNCIAVITAE
23
TITLE: The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts
AUTHORS: Dominique P Germain; Perry M Elliott; Bruno Falissard; Victor V Fomin; Max J Hilz; Ana Jovanovic; Ilkka Kantola; Ales Linhart; Renzo Mignani; Mehdi Namdar; Albina Nowak; Oliveira, JP ; Maurizio Pieroni; Miguel Viana Baptista; Christoph Wanner; Marco Spada;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 19
INDEXED IN: Scopus WOS CrossRef: 75
IN MY: ORCID | CIÊNCIAVITAE
24
TITLE: A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients  Full Text
AUTHORS: Robert J Hopkin; Dominique P Germain; Daniel G Bichet; Daniel J Gruskin; Roberta M Lemay; Oliveira, JP ; Juan M Politei; Christoph Wanner; William R Wilcox; Han Wook Yoo; David G Warnock;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
25
TITLE: European expert consensus statement on therapeutic goals in Fabry disease  Full Text
AUTHORS: Christoph Wanner; Michael Arad; Ralf Baron; Alessandro Burlina; Perry M Elliott; Ulla Feldt Rasmussen; Victor V Fomin; Dominique P Germain; Derralynn A Hughes; Ana Jovanovic; Ilkka Kantola; Ales Linhart; Renzo Mignani; Lorenzo Monserrat; Mehdi Namdar; Albina Nowak; Oliveira, JP ; Alberto Ortiz; Maurizio Pieroni; Marco Spada; Anna Tylki Szymanska; Camilla Tondel; Miguel Viana Baptista; Frank Weidemann; Max J Hilz; ...More
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 124, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 121
IN MY: ORCID | CIÊNCIAVITAE
26
TITLE: Novel missense LCAT gene mutation associated with an atypical phenotype of familial LCAT deficiency in two portuguese brothers
AUTHORS: Castro Ferreira, I; Carmo, R; Silva, SE; Corrêa, O; Fernandes, S; Sampaio, S ; Pedro, RP; Praça, A; Oliveira, JP ;
PUBLISHED: 2018, SOURCE: JIMD Reports, VOLUME: 40
INDEXED IN: Scopus CrossRef: 8
IN MY: ORCID | CIÊNCIAVITAE
27
TITLE: A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry  Full Text
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Daniel J Gruskin; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
28
TITLE: Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar Sao Joao Neurogenetics Group  Full Text
AUTHORS: Monteiro, A; João Massano ; Leão, M; Garrett, C; Carla Pinto Moura ; Global COVID-19 Stroke Registry ; Guimarães, J; Oliveira, JP ; Castro, P;
PUBLISHED: 2017, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 30, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
29
TITLE: Unrecognized Fibrinogen A alpha-Chain Amyloidosis: Results From Targeted Genetic Testing
AUTHORS: Tavares, I ; Oliveira, JP ; Pinho, A; Moreira, L; Rocha, L; Santos, J ; Pinheiro, J; Costa, PP ; Lobato, L;
PUBLISHED: 2017, SOURCE: AMERICAN JOURNAL OF KIDNEY DISEASES, VOLUME: 70, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 8 Handle
IN MY: ORCID | CIÊNCIAVITAE
30
Page 3 of 12. Total results: 112.

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